Incidental Mutation 'R2268:Mink1'
ID 242247
Institutional Source Beutler Lab
Gene Symbol Mink1
Ensembl Gene ENSMUSG00000020827
Gene Name misshapen-like kinase 1 (zebrafish)
Synonyms Misshapen/NIKs-related kinase, Map4k6, Ysk2, MINK
MMRRC Submission 040268-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2268 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 70453707-70505309 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to A at 70492550 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000099619 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072237] [ENSMUST00000072873] [ENSMUST00000079244] [ENSMUST00000102558] [ENSMUST00000102559]
AlphaFold Q9JM52
Predicted Effect probably null
Transcript: ENSMUST00000072237
SMART Domains Protein: ENSMUSP00000072091
Gene: ENSMUSG00000020827

DomainStartEndE-ValueType
S_TKc 25 289 1.86e-91 SMART
low complexity region 307 338 N/A INTRINSIC
coiled coil region 351 496 N/A INTRINSIC
low complexity region 557 569 N/A INTRINSIC
low complexity region 620 633 N/A INTRINSIC
low complexity region 646 659 N/A INTRINSIC
low complexity region 719 738 N/A INTRINSIC
low complexity region 837 874 N/A INTRINSIC
CNH 1026 1324 1.58e-113 SMART
Predicted Effect probably null
Transcript: ENSMUST00000072873
SMART Domains Protein: ENSMUSP00000072649
Gene: ENSMUSG00000020827

DomainStartEndE-ValueType
S_TKc 25 289 1.86e-91 SMART
low complexity region 307 338 N/A INTRINSIC
coiled coil region 351 496 N/A INTRINSIC
low complexity region 557 569 N/A INTRINSIC
low complexity region 620 633 N/A INTRINSIC
low complexity region 646 659 N/A INTRINSIC
low complexity region 719 738 N/A INTRINSIC
low complexity region 829 853 N/A INTRINSIC
CNH 1019 1317 1.58e-113 SMART
Predicted Effect probably null
Transcript: ENSMUST00000079244
SMART Domains Protein: ENSMUSP00000078234
Gene: ENSMUSG00000020827

DomainStartEndE-ValueType
S_TKc 25 289 1.86e-91 SMART
low complexity region 314 338 N/A INTRINSIC
coiled coil region 348 493 N/A INTRINSIC
low complexity region 554 566 N/A INTRINSIC
low complexity region 617 630 N/A INTRINSIC
low complexity region 643 656 N/A INTRINSIC
low complexity region 716 735 N/A INTRINSIC
low complexity region 826 850 N/A INTRINSIC
CNH 1016 1314 1.58e-113 SMART
Predicted Effect probably null
Transcript: ENSMUST00000102558
SMART Domains Protein: ENSMUSP00000099618
Gene: ENSMUSG00000020827

DomainStartEndE-ValueType
S_TKc 25 289 1.86e-91 SMART
low complexity region 307 338 N/A INTRINSIC
coiled coil region 351 496 N/A INTRINSIC
low complexity region 557 569 N/A INTRINSIC
low complexity region 620 633 N/A INTRINSIC
low complexity region 646 659 N/A INTRINSIC
low complexity region 792 816 N/A INTRINSIC
CNH 982 1280 1.58e-113 SMART
Predicted Effect probably null
Transcript: ENSMUST00000102559
SMART Domains Protein: ENSMUSP00000099619
Gene: ENSMUSG00000020827

DomainStartEndE-ValueType
S_TKc 25 289 1.86e-91 SMART
low complexity region 307 338 N/A INTRINSIC
coiled coil region 351 496 N/A INTRINSIC
low complexity region 557 569 N/A INTRINSIC
low complexity region 620 633 N/A INTRINSIC
low complexity region 646 659 N/A INTRINSIC
low complexity region 800 824 N/A INTRINSIC
CNH 990 1288 1.58e-113 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133310
Predicted Effect probably benign
Transcript: ENSMUST00000136663
SMART Domains Protein: ENSMUSP00000117959
Gene: ENSMUSG00000020827

DomainStartEndE-ValueType
Pfam:Pkinase_Tyr 1 140 2.3e-22 PFAM
Pfam:Pkinase 1 143 1.6e-30 PFAM
low complexity region 161 192 N/A INTRINSIC
coiled coil region 204 349 N/A INTRINSIC
low complexity region 411 423 N/A INTRINSIC
low complexity region 474 487 N/A INTRINSIC
low complexity region 500 513 N/A INTRINSIC
low complexity region 573 592 N/A INTRINSIC
low complexity region 691 728 N/A INTRINSIC
CNH 880 1178 1.58e-113 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153503
Predicted Effect probably benign
Transcript: ENSMUST00000178764
Predicted Effect probably benign
Transcript: ENSMUST00000149845
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 94.7%
Validation Efficiency 100% (82/82)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a serine/threonine kinase belonging to the germinal center kinase (GCK) family. The protein is structurally similar to the kinases that are related to NIK and may belong to a distinct subfamily of NIK-related kinases within the GCK family. Studies of the mouse homolog indicate an up-regulation of expression in the course of postnatal mouse cerebral development and activation of the cJun N-terminal kinase (JNK) and the p38 pathways. [provided by RefSeq, Mar 2016]
Allele List at MGI
Other mutations in this stock
Total: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acox2 A T 14: 8,253,496 (GRCm38) M217K probably damaging Het
Adam34 C T 8: 44,103,647 (GRCm39) R666H probably benign Het
Adap2 G T 11: 80,056,552 (GRCm39) Q188H probably damaging Het
Adgrb3 T C 1: 25,150,898 (GRCm39) T872A possibly damaging Het
Ahnak A G 19: 8,987,938 (GRCm39) K3074R possibly damaging Het
Ano7 A T 1: 93,308,161 (GRCm39) D64V possibly damaging Het
Apob T C 12: 8,065,475 (GRCm39) F4115S possibly damaging Het
Arl13a A G X: 133,106,162 (GRCm39) Q236R possibly damaging Het
Astn1 T C 1: 158,329,669 (GRCm39) Y175H probably damaging Het
Atn1 C G 6: 124,723,203 (GRCm39) probably benign Het
Ccser1 C T 6: 61,547,827 (GRCm39) T118M probably damaging Het
Cenpe A G 3: 134,967,397 (GRCm39) T2180A probably benign Het
Col17a1 G A 19: 47,638,550 (GRCm39) P1173S probably benign Het
Commd8 A G 5: 72,322,765 (GRCm39) W51R probably damaging Het
Cyp4f17 G T 17: 32,736,928 (GRCm39) V87F probably benign Het
D2hgdh C T 1: 93,763,157 (GRCm39) A314V probably damaging Het
Dcun1d4 T A 5: 73,638,618 (GRCm39) probably benign Het
Dhodh A G 8: 110,321,306 (GRCm39) F360S possibly damaging Het
Dipk2b A G X: 18,289,926 (GRCm39) S179P possibly damaging Het
Dynap C T 18: 70,374,218 (GRCm39) A103T probably benign Het
Edem2 G A 2: 155,544,137 (GRCm39) P538S probably benign Het
Egfl8 C T 17: 34,832,832 (GRCm39) V253M probably damaging Het
Erich6 A T 3: 58,526,260 (GRCm39) S581T probably benign Het
Fam117b T C 1: 59,952,789 (GRCm39) L156P probably damaging Het
Fbn1 G T 2: 125,163,661 (GRCm39) A2065E possibly damaging Het
Foxn4 T C 5: 114,393,662 (GRCm39) T486A probably damaging Het
Fzd9 A G 5: 135,279,148 (GRCm39) S246P probably damaging Het
Hdhd2 C T 18: 77,052,866 (GRCm39) T172M probably benign Het
Heatr5a T C 12: 51,940,528 (GRCm39) D1444G possibly damaging Het
Hmcn1 A G 1: 150,500,349 (GRCm39) probably benign Het
Hps3 G A 3: 20,067,099 (GRCm39) probably benign Het
Hr A T 14: 70,795,547 (GRCm39) D393V probably benign Het
Ido2 T C 8: 25,025,268 (GRCm39) Y253C probably damaging Het
Irs2 T C 8: 11,057,586 (GRCm39) E282G probably damaging Het
Itih4 A G 14: 30,614,385 (GRCm39) D445G probably damaging Het
Kif14 T A 1: 136,447,486 (GRCm39) C1430* probably null Het
Kir3dl1 A G X: 135,425,784 (GRCm39) R53G probably benign Het
Lama2 T A 10: 26,868,932 (GRCm39) I2838F probably damaging Het
Lamb1 A T 12: 31,377,644 (GRCm39) I1630F probably damaging Het
Lsmem1 GTACATACATACATACATACATACATACA GTACATACATACATACATACATACATACATACA 12: 40,235,260 (GRCm39) probably null Het
Magi3 G A 3: 103,928,382 (GRCm39) probably benign Het
Mmrn2 A G 14: 34,121,449 (GRCm39) K773R probably benign Het
Mpdz A G 4: 81,301,628 (GRCm39) S266P probably damaging Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Mtbp G A 15: 55,432,556 (GRCm39) probably null Het
Mybphl A G 3: 108,272,317 (GRCm39) E2G probably damaging Het
Myoc C T 1: 162,476,625 (GRCm39) T443M probably damaging Het
Nav1 A T 1: 135,399,974 (GRCm39) L532* probably null Het
Nbeal1 T A 1: 60,370,037 (GRCm39) probably benign Het
Nfix CAAAAA CAAAA 8: 85,442,876 (GRCm39) probably null Het
Opcml T C 9: 28,814,651 (GRCm39) I301T possibly damaging Het
Or10ak16 A T 4: 118,751,071 (GRCm39) R264W probably damaging Het
Or8b1 T A 9: 38,399,504 (GRCm39) Y60N probably damaging Het
Pappa2 A G 1: 158,684,841 (GRCm39) M766T probably damaging Het
Phf8 T C X: 150,355,597 (GRCm39) L520S possibly damaging Het
Phka1 A G X: 101,584,716 (GRCm39) probably benign Het
Ppp2ca G A 11: 52,008,913 (GRCm39) G138R probably damaging Het
Prrc1 G T 18: 57,514,718 (GRCm39) D312Y probably damaging Het
Rdh7 A G 10: 127,720,530 (GRCm39) S281P probably benign Het
Rps17 C T 7: 80,994,746 (GRCm39) R5H probably benign Het
Scgb1b2 T A 7: 30,991,201 (GRCm39) probably benign Het
Skic3 T G 13: 76,260,393 (GRCm39) probably benign Het
Slc35a3 T C 3: 116,467,285 (GRCm39) K325E possibly damaging Het
Snap23 A G 2: 120,429,793 (GRCm39) T213A probably benign Het
Spag17 C A 3: 99,969,182 (GRCm39) probably null Het
Srebf1 A G 11: 60,097,973 (GRCm39) S44P probably damaging Het
St8sia5 T C 18: 77,320,526 (GRCm39) S93P probably damaging Het
Styk1 T C 6: 131,289,539 (GRCm39) E25G probably benign Het
Taar8b T C 10: 23,967,270 (GRCm39) N308S probably damaging Het
Tbc1d14 A G 5: 36,700,561 (GRCm39) L269P possibly damaging Het
Tbc1d22b A G 17: 29,818,828 (GRCm39) H394R probably damaging Het
Tbx5 A T 5: 119,983,174 (GRCm39) probably null Het
Tgfbr3l A G 8: 4,300,506 (GRCm39) E228G probably benign Het
Tlr5 T A 1: 182,802,600 (GRCm39) S635T possibly damaging Het
Tmem233 G C 5: 116,189,517 (GRCm39) probably benign Het
Tymp A T 15: 89,258,011 (GRCm39) V378D probably damaging Het
Vangl1 A T 3: 102,104,160 (GRCm39) Y7N probably damaging Het
Vav2 A T 2: 27,182,667 (GRCm39) probably null Het
Vcp G A 4: 42,980,833 (GRCm39) A759V possibly damaging Het
Vmn2r15 A G 5: 109,441,073 (GRCm39) Y262H probably benign Het
Vmn2r76 T C 7: 85,879,707 (GRCm39) M198V probably benign Het
Zfp831 A C 2: 174,486,034 (GRCm39) R236S probably benign Het
Other mutations in Mink1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00501:Mink1 APN 11 70,494,638 (GRCm39) missense probably damaging 0.99
IGL00709:Mink1 APN 11 70,503,845 (GRCm39) missense probably damaging 0.99
IGL01064:Mink1 APN 11 70,494,307 (GRCm39) missense probably benign 0.05
IGL02612:Mink1 APN 11 70,488,052 (GRCm39) missense probably damaging 1.00
IGL02797:Mink1 APN 11 70,501,176 (GRCm39) missense probably damaging 1.00
IGL03056:Mink1 APN 11 70,503,409 (GRCm39) critical splice donor site probably null
IGL03066:Mink1 APN 11 70,499,715 (GRCm39) missense probably benign 0.01
IGL03185:Mink1 APN 11 70,494,686 (GRCm39) missense probably damaging 1.00
PIT4498001:Mink1 UTSW 11 70,489,714 (GRCm39) missense probably benign 0.05
R0025:Mink1 UTSW 11 70,503,868 (GRCm39) missense probably damaging 1.00
R0025:Mink1 UTSW 11 70,503,868 (GRCm39) missense probably damaging 1.00
R0488:Mink1 UTSW 11 70,488,030 (GRCm39) missense probably damaging 1.00
R0637:Mink1 UTSW 11 70,492,502 (GRCm39) missense probably damaging 0.96
R0828:Mink1 UTSW 11 70,500,971 (GRCm39) nonsense probably null
R1081:Mink1 UTSW 11 70,497,861 (GRCm39) missense probably benign 0.07
R1175:Mink1 UTSW 11 70,502,166 (GRCm39) missense probably benign 0.02
R1441:Mink1 UTSW 11 70,497,940 (GRCm39) missense possibly damaging 0.72
R1532:Mink1 UTSW 11 70,492,833 (GRCm39) missense probably null 1.00
R1545:Mink1 UTSW 11 70,489,717 (GRCm39) missense possibly damaging 0.60
R1634:Mink1 UTSW 11 70,499,706 (GRCm39) missense probably benign 0.00
R1932:Mink1 UTSW 11 70,499,254 (GRCm39) critical splice donor site probably null
R2033:Mink1 UTSW 11 70,503,334 (GRCm39) missense probably damaging 1.00
R2184:Mink1 UTSW 11 70,494,623 (GRCm39) missense probably damaging 1.00
R2267:Mink1 UTSW 11 70,492,550 (GRCm39) splice site probably null
R2859:Mink1 UTSW 11 70,503,334 (GRCm39) missense probably damaging 1.00
R3713:Mink1 UTSW 11 70,499,776 (GRCm39) missense possibly damaging 0.93
R3714:Mink1 UTSW 11 70,499,776 (GRCm39) missense possibly damaging 0.93
R3715:Mink1 UTSW 11 70,499,776 (GRCm39) missense possibly damaging 0.93
R3716:Mink1 UTSW 11 70,498,587 (GRCm39) missense probably damaging 0.98
R3717:Mink1 UTSW 11 70,498,587 (GRCm39) missense probably damaging 0.98
R4607:Mink1 UTSW 11 70,496,893 (GRCm39) missense possibly damaging 0.72
R4735:Mink1 UTSW 11 70,500,086 (GRCm39) splice site probably null
R4790:Mink1 UTSW 11 70,489,867 (GRCm39) missense probably damaging 0.99
R4847:Mink1 UTSW 11 70,492,854 (GRCm39) missense probably damaging 1.00
R4860:Mink1 UTSW 11 70,502,418 (GRCm39) missense probably damaging 0.98
R4860:Mink1 UTSW 11 70,502,418 (GRCm39) missense probably damaging 0.98
R5081:Mink1 UTSW 11 70,495,970 (GRCm39) missense probably damaging 0.98
R5310:Mink1 UTSW 11 70,498,169 (GRCm39) missense probably benign 0.33
R5677:Mink1 UTSW 11 70,495,991 (GRCm39) missense possibly damaging 0.66
R5767:Mink1 UTSW 11 70,496,901 (GRCm39) missense possibly damaging 0.53
R5795:Mink1 UTSW 11 70,498,616 (GRCm39) missense possibly damaging 0.86
R5888:Mink1 UTSW 11 70,500,885 (GRCm39) unclassified probably benign
R5950:Mink1 UTSW 11 70,500,412 (GRCm39) missense possibly damaging 0.81
R6024:Mink1 UTSW 11 70,489,915 (GRCm39) missense possibly damaging 0.71
R6034:Mink1 UTSW 11 70,497,866 (GRCm39) small deletion probably benign
R6034:Mink1 UTSW 11 70,497,866 (GRCm39) small deletion probably benign
R6058:Mink1 UTSW 11 70,502,546 (GRCm39) missense possibly damaging 0.96
R6144:Mink1 UTSW 11 70,501,478 (GRCm39) missense possibly damaging 0.66
R6154:Mink1 UTSW 11 70,500,927 (GRCm39) missense possibly damaging 0.46
R6218:Mink1 UTSW 11 70,489,720 (GRCm39) missense possibly damaging 0.94
R6262:Mink1 UTSW 11 70,494,151 (GRCm39) splice site probably null
R6269:Mink1 UTSW 11 70,489,813 (GRCm39) missense probably damaging 1.00
R6273:Mink1 UTSW 11 70,502,261 (GRCm39) nonsense probably null
R6301:Mink1 UTSW 11 70,503,120 (GRCm39) missense possibly damaging 0.71
R6603:Mink1 UTSW 11 70,500,419 (GRCm39) missense probably damaging 0.96
R6876:Mink1 UTSW 11 70,498,261 (GRCm39) missense probably benign 0.02
R7030:Mink1 UTSW 11 70,498,601 (GRCm39) missense possibly damaging 0.46
R7050:Mink1 UTSW 11 70,503,158 (GRCm39) missense possibly damaging 0.93
R7094:Mink1 UTSW 11 70,500,901 (GRCm39) splice site probably null
R7135:Mink1 UTSW 11 70,494,329 (GRCm39) missense probably damaging 1.00
R7238:Mink1 UTSW 11 70,502,305 (GRCm39) critical splice donor site probably null
R7320:Mink1 UTSW 11 70,489,899 (GRCm39) missense probably benign 0.23
R7396:Mink1 UTSW 11 70,495,994 (GRCm39) missense possibly damaging 0.73
R7446:Mink1 UTSW 11 70,500,455 (GRCm39) missense probably benign 0.18
R7723:Mink1 UTSW 11 70,503,736 (GRCm39) missense probably benign 0.16
R7896:Mink1 UTSW 11 70,503,108 (GRCm39) missense possibly damaging 0.71
R8058:Mink1 UTSW 11 70,494,594 (GRCm39) nonsense probably null
R8082:Mink1 UTSW 11 70,504,103 (GRCm39) missense possibly damaging 0.71
R8160:Mink1 UTSW 11 70,496,907 (GRCm39) nonsense probably null
R8335:Mink1 UTSW 11 70,500,401 (GRCm39) missense probably damaging 0.97
R8353:Mink1 UTSW 11 70,501,154 (GRCm39) missense possibly damaging 0.70
R8453:Mink1 UTSW 11 70,501,154 (GRCm39) missense possibly damaging 0.70
R8732:Mink1 UTSW 11 70,500,902 (GRCm39) critical splice acceptor site probably null
R9072:Mink1 UTSW 11 70,499,207 (GRCm39) missense possibly damaging 0.86
R9073:Mink1 UTSW 11 70,499,207 (GRCm39) missense possibly damaging 0.86
R9324:Mink1 UTSW 11 70,502,477 (GRCm39) missense probably damaging 0.98
R9596:Mink1 UTSW 11 70,497,915 (GRCm39) missense possibly damaging 0.96
Predicted Primers PCR Primer
(F):5'- TCTGACTCACACCAGTCTGG -3'
(R):5'- AGGGGAGGTTAGCTCTTAGTCC -3'

Sequencing Primer
(F):5'- CTGGTCTTGCTCCAGGAGTC -3'
(R):5'- GCTCTTAGTCCATTCAGAGTGAAGC -3'
Posted On 2014-10-16